Related Experiment Video

Updated: Jan 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.5K

Analysis of Genetic Variants MTHFR C677T, ACE I/D, AT1R A1166C and eNOS 4a/b in the Context of Essential Hypertension

Remus Nica1,2, Silvia Nica3,4, Luciana Teodora Rotaru5

  • 1Faculty of Midwifery and Nursing, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Biomedicines
|November 27, 2025
PubMed

Insights

Essential hypertension (EH) risk is linked to ACE I/D and MTHFR C677T gene variants in Romanians. Smoking amplifies this risk, highlighting gene-environment interactions in hypertension development.

Area of Science:

  • Genetics and Cardiovascular Disease Epidemiology

Background:

  • Arterial hypertension (AH) is a major risk factor for cardiovascular diseases, the leading cause of global mortality.
  • Essential hypertension (EH), lacking a specific cause, accounts for most AH cases worldwide.

Purpose of the Study:

  • To investigate the association between EH and genetic variants MTHFR C677T, ACE I/D, AT1R A1166C, and eNOS 4a/b in the Romanian adult Caucasian population.
  • To explore potential interactions between these genetic factors and lifestyle choices.

Main Methods:

  • A case-control study involving 845 EH patients and 845 controls from Romania.
  • Genotyping of MTHFR C677T, ACE I/D, AT1R A1166C, and eNOS 4a/b polymorphisms using PCR-based methods.
  • Collection of clinical, para-clinical, and lifestyle data.

Main Results:

  • ACE DD and MTHFR TT genotypes were associated with an increased risk of EH (OR=1.44, p=0.0007 and OR=1.46, p=0.0007, respectively).
  • Smoking and physical activity were identified as associated lifestyle factors.
  • Combined ACE DD or MTHFR TT genotypes with smoking significantly increased EH risk (e.g., ACE DD + smoking: OR=1.62, p=0.0005).

Conclusions:

  • The ACE I/D and MTHFR C677T polymorphisms appear to contribute to EH susceptibility.
  • AT1R A1166C and eNOS 4a/b polymorphisms showed no significant association with EH in this population.
  • Gene-environment interactions, particularly between ACE/MTHFR variants and smoking, heighten the risk of developing essential hypertension.

Keywords:
ACE I/DAT1R A1166CMTHFR C677TeNOS 4a/bessential hypertensionsingle nucleotide polymorphism

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.3K

Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.4K
Hypertension II: Pathophysiology01:29

Hypertension II: Pathophysiology

Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...
763
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.9K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.6K
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
451
Genetic Lingo01:11

Genetic Lingo

Overview
113.6K